目的 报告确诊脊髓性肌萎缩伴呼吸窘迫1型（SMARD 1）的临床表现及神经电生理结果。方法 总结分析 1例SMARD1患儿的临床资料。结果 患儿系小于胎龄儿，生后31天出现吃奶差，逐渐出现呼吸衰竭。呼吸机使用中仍 间断出现自主呼吸喘促伴血氧饱和度下降。胸片示右侧膈膨升及炎性实变。基因检测发现免疫球蛋白μ结合蛋白2基因 （IGHMBP2）2个杂合的致病变异，无义变异c. 1813 C>T来自母亲，缺失变异c. 905 _ 912 + 84 del来自父亲。神经电生理示 多发性周围神经损害。结论 SMARD 1是IGHMBP 2基因变异所致的罕见常染色体隐性遗传病。

Objective To report the clinical manifestations and neuroelectrophysiological results of a child diagnosed as spinal muscular atrophy with respiratory distress type 1 (SMARD 1 ). Methods Clinical data of a case of SMARD 1 was analyzed. Results This case was small for gestational age. After birth, there was a weak cry, and the condition gradually progressed. On the 31st day after birth, there was a poor milk intake and a weaker cry. During hospitalization, there was respiratory failure. Under ventilation, there was still intermittent spontaneous shortness of breath and decreased blood oxygen saturation. Right diaphragmatic eventration and inflammatory consolidation were present in bedside chest radiograph after tracheal intubation. The genetic test found two compound heterozygous mutations in IGHMBP2 . Among these two mutations, nonsense mutation of c. 1813 C>T was inherited from his mother, and c. 905 _ 912 + 84 del was inherited from his father. Neuroelectrophysiology showed multiple peripheral nerve damage. Conclusion SMARD 1 is a rare autosomal recessive disorder. The mutation of IGHMBP 2 gene causes progressive damage of α motor neurons in the anterior horn of the spinal cord